"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1704343	NM_000791.4(DHFR):c.-231C>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1750993	NM_002439.5(MSH3):c.-5C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 643321	NM_002439.5(MSH3):c.15G>T (p.Lys5Asn)	DHFR, MSH3 (K5N)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 650237	NM_000791.4(DHFR):c.-254G>A	DHFR, MSH3 (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +4 more	GUncertain significance
Select item 778197	NM_000791.4(DHFR):c.-259C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 2682015	NM_002439.5(MSH3):c.44G>A (p.Ser15Asn)	DHFR, MSH3 (S15N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1060565	NM_002439.5(MSH3):c.79T>G (p.Phe27Val)	DHFR, MSH3 (F27V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 757843	NM_000791.4(DHFR):c.-334T>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GLikely benign
Select item 710428	NM_000791.4(DHFR):c.-349G>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1480055	NM_002439.5(MSH3):c.115T>G (p.Ser39Ala)	DHFR, MSH3 (S39A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 648547	NM_002439.5(MSH3):c.115T>A (p.Ser39Thr)	DHFR, MSH3 (S39T)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4 +3 more	GUncertain significance
Select item 771380	NM_000791.4(DHFR):c.-367T>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1503166	NM_002439.5(MSH3):c.138G>C (p.Gln46His)	DHFR, MSH3 (Q46H)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 651887	NM_002439.5(MSH3):c.145C>T (p.Pro49Ser)	DHFR, MSH3 (P49S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 758975	NM_000791.4(DHFR):c.-384G>C	DHFR, MSH3 (P49R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 727279	NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala62_Pro63insAlaAlaAla)	MSH3, DHFR	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 710203	NM_000791.4(DHFR):c.-406CGCTGCAGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 718446	NM_000791.4(DHFR):c.-418GGCCGCTGC[3]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 790792	NM_000791.4(DHFR):c.-418GGCCGCTGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1330129	NM_002439.5(MSH3):c.172_189dup (p.Pro63_Pro64insAlaAlaAlaAlaAlaPro)	DHFR, MSH3	Duplication (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 730678	NM_000791.4(DHFR):c.-411G>A	DHFR, MSH3 (A58V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 771150	NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 635180	NM_000791.4(DHFR):c.-416C>G	MSH3, DHFR (A60P)	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 518369	NM_000791.4(DHFR):c.-425_-417dup	DHFR, MSH3	Duplication (5 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 787823	NM_000791.4(DHFR):c.-437GGGGCGCTG[4]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 778210	NM_000791.4(DHFR):c.-437GGGGCGCTG[5]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 725804	NM_000791.4(DHFR):c.-419C>G	MSH3, DHFR (A61P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 218608	NM_000791.4(DHFR):c.-437GGGGCGCTG[3]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 717848	NM_000791.4(DHFR):c.-437GGGGCGCTG[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1704342	NM_000791.4(DHFR):c.-425G>A	DHFR, MSH3 (P63S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1809511	NM_000791.4(DHFR):c.-428G>C	DHFR, MSH3 (P64A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign/Likely benign
Select item 856054	NM_002439.5(MSH3):c.191C>T (p.Pro64Leu)	DHFR, MSH3 (P64L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 758610	NM_002439.5(MSH3):c.195G>C (p.Ala65=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1692667	NM_000791.4(DHFR):c.-443G>A	DHFR, MSH3 (P69S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 761302	NM_002439.5(MSH3):c.222G>A (p.Gln74=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 748710	NM_002439.5(MSH3):c.225G>T (p.Leu75=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 761175	NM_002439.5(MSH3):c.237+7T>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	MSH3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 814702	GRCh37/hg19 5q14.1(chr5:79705427-80237350)x3	DHFR, FAM151B +4 more	Copy number gain	not provided	GUncertain significance
Select item 814701	GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3	SPZ1, MTRNR2L2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	GUncertain significance

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Items: 41